Canonical Allele Identifier: CA2392434184

Gene: COL6A1

Linked Data

• dbSNP Id: rs1556425767
• gnomAD v4: 21-45990459-A-AGGAGGGACGG

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990464_45990465insGACGGGGAGG , CM000683.2:g.45990464_45990465insGACGGGGAGG	GRCh38
NC_000021.8:g.47410378_47410379insGACGGGGAGG , CM000683.1:g.47410378_47410379insGACGGGGAGG	GRCh37
NC_000021.7:g.46234806_46234807insGACGGGGAGG	NCBI36
NG_008674.1:g.13716_13717insGACGGGGAGG , LRG_475:g.13716_13717insGACGGGGAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+42_1002+43insGACGGGGAGG MANE Select	ENSP00000355180.3:n.1002+42_1002+43insGACGGGGAGG
ENST00000361866.7:c.1002+42_1002+43insGACGGGGAGG	ENSP00000355180.3:n.1002+42_1002+43insGACGGGGAGG
ENST00000612273.1:c.1002+42_1002+43insGACGGGGAGG	ENSP00000483630.1:n.1002+42_1002+43insGACGGGGAGG
NM_001848.2:c.1002+42_1002+43insGACGGGGAGG , LRG_475t1:c.1002+42_1002+43insGACGGGGAGG	NP_001839.2:n.1002+42_1002+43insGACGGGGAGG
NM_001848.3:c.1002+42_1002+43insGACGGGGAGG MANE Select	NP_001839.2:n.1002+42_1002+43insGACGGGGAGG